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rs863225155

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225155(G;T)
Make rs863225155(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37138742
GeneC5orf42
is asnp
is mentioned by
dbSNPrs863225155
dbSNP (classic)rs863225155
ClinGenrs863225155
ebirs863225155
HLIrs863225155
Exacrs863225155
Gnomadrs863225155
Varsomers863225155
LitVarrs863225155
Maprs863225155
PheGenIrs863225155
Biobankrs863225155
1000 genomesrs863225155
hgdprs863225155
ensemblrs863225155
geneviewrs863225155
scholarrs863225155
googlers863225155
pharmgkbrs863225155
gwascentralrs863225155
openSNPrs863225155
23andMers863225155
SNPshotrs863225155
SNPdbers863225155
MSV3drs863225155
GWAS Ctlgrs863225155
Max Magnitude0
ClinVar
Risk rs863225155(T;T)
Alt rs863225155(T;T)
Reference Rs863225155(G;G)
Significance Pathogenic
Disease Joubert syndrome 17 not provided
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17 not provided
Reversed 1
HGVS NC_000005.9:g.37138844C>A
CLNSRC
CLNACC RCV000201751.1, RCV000432168.1,